Linked Data
ClinVar Variation Id:
2653578
dbSNP Id:
rs187262922
gnomAD v3:
3-14141653-G-A
gnomAD v4:
3-14141653-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14141653G>A , CM000665.2:g.14141653G>A | GRCh38 |
| NC_000003.11:g.14183153G>A , CM000665.1:g.14183153G>A | GRCh37 |
| NC_000003.10:g.14158154G>A | NCBI36 |
| NG_008975.1:g.21714G>A , LRG_435:g.21714G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*1091G>A | ENSP00000395617.1:n.*1091G>A | |
| ENST00000306077.5:c.1061G>A MANE Select | ENSP00000303992.5:p.Cys354Tyr | |
| ENST00000306077.4:c.1061G>A | ENSP00000303992.4:p.Cys354Tyr | |
| ENST00000601399.3:n.327+2356G>A | ||
| ENST00000608606.1:c.236+2356G>A | ||
| NM_024334.2:c.1061G>A , LRG_435t1:c.1061G>A | NP_077310.1:p.Cys354Tyr | |
| XM_011534109.1:c.956G>A | XP_011532411.1:p.Cys319Tyr | |
| XM_017007176.2:c.956G>A | XP_016862665.1:p.Cys319Tyr | |
| NM_024334.3:c.1061G>A MANE Select | NP_077310.1:p.Cys354Tyr |